Decades of research have identified genetic factors and biochemical pathways involved in
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …

The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD).
PrLDs are low-complexity domains that possess a similar amino acid composition to prion …

The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a …

Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic
fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. Proper shuttling …

Redox homeostasis refers to the balance between the production of reactive oxygen species
(ROS) as well as reactive nitrogen species (RNS), and their elimination by antioxidants. It is …

Mutations in FUS cause amyotrophic lateral sclerosis (ALS), including some of the most
aggressive, juvenile-onset forms of the disease. FUS loss-of-function and toxic gain-of …

Through the generation of humanized FUS mice expressing full-length human FUS, we
identify that when expressed at near endogenous murine FUS levels, both wild-type and …

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate
that most human multiexon genes are alternatively spliced. If this process is not highly …

Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical
determinants of neurological diseases, especially motor neuron disorders such as …